ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.2186G>A (p.Ser729Asn)

gnomAD frequency: 0.00001  dbSNP: rs779169990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001361393 SCV001557368 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2022-11-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs779169990, gnomAD 0.002%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1053091). This variant has not been reported in the literature in individuals affected with DSE-related conditions. This sequence change replaces serine with asparagine at codon 729 of the DSE protein (p.Ser729Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine.
CeGaT Center for Human Genetics Tuebingen RCV002070241 SCV002497451 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing DSE: BP4

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